Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894476
rs104894476
1.000 0.040 14 67729220 missense variant C/G snv
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs28940313
rs28940313
1.000 0.040 14 67729209 splice donor variant A/G snv 7.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.800 1.000 2 2004 2004
dbSNP: rs200595749
rs200595749
0.925 0.080 14 67766404 missense variant C/T snv 8.8E-05 9.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 2 2011 2011
dbSNP: rs386834261
rs386834261
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.700 1.000 5 2005 2015
dbSNP: rs1239043055
rs1239043055
0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06
CUI: C2675186
Disease: LEBER CONGENITAL AMAUROSIS 13
LEBER CONGENITAL AMAUROSIS 13
Eye Diseases 0.700 1.000 2 2005 2014
dbSNP: rs752283089
rs752283089
14 67783217 stop gained G/T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs767164213
rs767164213
0.925 0.160 14 67786112 splice donor variant A/C snv 1.6E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2008 2009
dbSNP: rs769329153
rs769329153
0.925 0.160 14 67809291 splice acceptor variant T/C snv 5.2E-05 2.1E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2008 2009
dbSNP: rs774809466
rs774809466
0.925 0.160 14 67783020 stop gained G/A;T snv 4.0E-06
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs869312914
rs869312914
1.000 0.120 14 67752520 stop gained G/A snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs981804211
rs981804211
1.000 0.120 14 67798080 stop gained G/A;T snv 7.0E-06
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 2 2009 2015
dbSNP: rs1049504575
rs1049504575
1.000 0.120 14 67754069 splice donor variant A/T snv 4.0E-06 1.4E-05
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1057518016
rs1057518016
1.000 0.120 14 67797750 stop gained G/A snv 4.0E-06
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs118204049
rs118204049
1.000 0.120 14 67782840 stop gained G/A snv 1.2E-05 2.8E-05
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1214483973
rs1214483973
1.000 0.120 14 67775866 stop gained G/A snv 4.0E-06
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12891047
rs12891047
0.851 0.080 14 67776358 intron variant C/A snv 0.62
Amyotrophic Lateral Sclerosis, Sporadic
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12891047
rs12891047
0.851 0.080 14 67776358 intron variant C/A snv 0.62
AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
0.700 1.000 1 2014 2014
dbSNP: rs12891047
rs12891047
0.851 0.080 14 67776358 intron variant C/A snv 0.62
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1
Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs12891047
rs12891047
0.851 0.080 14 67776358 intron variant C/A snv 0.62
AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)
0.700 1.000 1 2014 2014
dbSNP: rs1555394376
rs1555394376
1.000 0.080 14 67762275 frameshift variant -/A delins
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs200832994
rs200832994
0.925 0.160 14 67807692 stop gained G/A snv 8.0E-06 2.1E-05
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs370828455
rs370828455
0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05
Spastic paraplegia 15, autosomal recessive
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs370828455
rs370828455
0.925 0.160 14 67782971 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 1981 1981
dbSNP: rs386834261
rs386834261
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.700 1.000 1 2004 2004
dbSNP: rs386834261
rs386834261
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
Eye Diseases 0.700 1.000 1 2004 2004